Identifying genetic factors linked to bicuspid aortic valve
Bicuspid aoRtic vAlVe gEnetic Research - BRAVE Study
This study is trying to find out which genes might be linked to bicuspid aortic valve by looking at patients with the condition and their close family members.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 700 (estimated) |
| Ages | 10 Years to 99 Years |
| Sex | All |
| Sponsor | University Hospitals, Leicester Academic / other |
| Locations | 4 sites (Kettering and 3 other locations) |
| Trial ID | NCT04514445 on ClinicalTrials.gov |
What this trial studies
This study focuses on bicuspid aortic valve (BAV), a common congenital heart defect that can lead to serious cardiovascular issues. It aims to identify genetic variants associated with BAV by involving patients diagnosed with the condition and their first-degree relatives. The study employs both case-control and family-based approaches to better understand the genetic basis of BAV and its familial clustering. Participants will be asked to provide genetic samples and health information to facilitate this research.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 10 and above with a diagnosed bicuspid aortic valve, as well as their first-degree relatives.
Not a fit: Patients with known cytogenetic disorders or diagnosed Mendelian syndromes may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of bicuspid aortic valve, potentially reducing complications and improving patient outcomes.
How similar studies have performed: While the genetic basis of BAV is known to be significant, this specific approach combining case-control and family-based methods is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: \- 1. All outpatients and inpatients with diagnosed BAV, of either gender, aged 10 and above. 2\. Affected and unaffected first degree relatives meeting the age criteria. Exclusion Criteria: * 1\) Patients unable to give informed consent. 2\) Patients known to be infected with HIV, Hepatitis B, Hepatitis C or any other agent posing an infection risk from unfixed material. 3\) Patient with known cytogenetic disorders e.g. aneuploidia, chromosomal abnormalities and known karyotype abnormalities. 4\) Patients with diagnosed or suspected Mendelian syndromes (e.g. Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome).
Where this trial is running
Kettering and 3 other locations
- Kettering General Hospital — Kettering, United Kingdom (Recruiting)
- University Hospitals of Leicester — Leicester, United Kingdom (Recruiting)
- Imperial College Healthcare NHS Trust — London, United Kingdom (Recruiting)
- Sheffield Teaching Hospital NHS Foundation Trust — Sheffield, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Aidan Bolger, Dr — Principal Investigator
- Study coordinator: Aidan Bolger, Dr
- Email: aidan.bolger@uhl-tr.nhs.uk
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.